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    ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 [ Homo sapiens (human) ]

    Gene ID: 140766, updated on 5-May-2024

    Summary

    Official Symbol
    ADAMTS14provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 14provided by HGNC
    Primary source
    HGNC:HGNC:14899
    See related
    Ensembl:ENSG00000138316 MIM:607506; AllianceGenome:HGNC:14899
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]
    Expression
    Biased expression in gall bladder (RPKM 3.7), placenta (RPKM 3.6) and 13 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ADAMTS14 in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (70672506..70762441)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (71542163..71632194)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72432262..72522197)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2450 Neighboring gene phosphatase domain containing paladin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72253375-72254035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72258695-72259456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72259457-72260216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72273197-72273732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72273733-72274267 Neighboring gene YY1 transcription factor pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 14353 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:72288493-72289410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72297349-72298033 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72298034-72298719 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72301641-72302141 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72318935-72319878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72319879-72320822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72344798-72345298 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:72345790-72345956 Neighboring gene Sharpr-MPRA regulatory region 12376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72356137-72356637 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:72385043-72385632 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72391517-72392148 Neighboring gene perforin 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:72396829-72397014 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17237 Neighboring gene Sharpr-MPRA regulatory region 11165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3511 Neighboring gene CRISPRi-validated cis-regulatory element chr10.2252 Neighboring gene Sharpr-MPRA regulatory region 4371 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72442365-72443210 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:72447939-72448583 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72453261-72453762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72453763-72454262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72461609-72462110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72462111-72462610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72465820-72466320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72497279-72497778 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17283 Neighboring gene Sharpr-MPRA regulatory region 12298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72502823-72503626 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72516391-72517350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72521542-72522311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72536007-72536834 Neighboring gene thymus, brain and testes associated Neighboring gene ribosomal protein S26 pseudogene 40

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study of sleep habits and insomnia.
    EBI GWAS Catalog
    Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.
    EBI GWAS Catalog
    Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32820

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in collagen catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen fibril organization TAS
    Traceable Author Statement
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 14
    Names
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042147.1 RefSeqGene

      Range
      4704..94639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_080722.4NP_542453.2  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_542453.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the shorter transcript and encodes the shorter isoform (2).
      Source sequence(s)
      AF358666, AF366351, AK128469, AL355344, AL358817, CN398634
      Consensus CDS
      CCDS7306.1
      UniProtKB/Swiss-Prot
      Q5T4G0, Q5T4G1, Q8TE55, Q8TEY8, Q8WXS8
      Related
      ENSP00000362303.1, ENST00000373207.2
      Conserved Domains (5) summary
      smart00209
      Location:555607
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:273457
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01562
      Location:104206
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:714829
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam06679
      Location:11111185
      DUF1180; Protein of unknown function (DUF1180)
    2. NM_139155.3NP_631894.2  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform 1 precursor

      See identical proteins and their annotated locations for NP_631894.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (1) is longer than isoform 2, but may undergo proteolytic processing similar to isoform 2.
      Source sequence(s)
      AF366351, AK128469, AL355344, AL358817, CN398634
      Consensus CDS
      CCDS7307.1
      UniProtKB/Swiss-Prot
      Q8WXS8
      Related
      ENSP00000362304.1, ENST00000373208.5
      Conserved Domains (5) summary
      smart00209
      Location:558610
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:273460
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01562
      Location:104206
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:717832
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam06679
      Location:11141188
      DUF1180; Protein of unknown function (DUF1180)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      70672506..70762441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539300.3XP_011537602.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X1

      Conserved Domains (6) summary
      smart00209
      Location:558610
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:273460
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01562
      Location:104206
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:717812
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam06679
      Location:9441018
      DUF1180; Protein of unknown function (DUF1180)
      cl15456
      Location:508543
      ADAM_CR; ADAM cysteine-rich
    2. XM_011539308.3XP_011537610.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X4

      See identical proteins and their annotated locations for XP_011537610.1

      Conserved Domains (5) summary
      smart00209
      Location:558610
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:273460
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01562
      Location:104206
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:717757
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:508543
      ADAM_CR; ADAM cysteine-rich
    3. XM_011539306.3XP_011537608.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X4

      See identical proteins and their annotated locations for XP_011537608.1

      Conserved Domains (5) summary
      smart00209
      Location:558610
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:273460
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01562
      Location:104206
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:717757
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:508543
      ADAM_CR; ADAM cysteine-rich
    4. XM_011539303.3XP_011537605.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X3

      Conserved Domains (5) summary
      smart00209
      Location:558610
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:273460
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01562
      Location:104206
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:717812
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:508543
      ADAM_CR; ADAM cysteine-rich
    5. XM_011539307.3XP_011537609.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X4

      See identical proteins and their annotated locations for XP_011537609.1

      Conserved Domains (5) summary
      smart00209
      Location:558610
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:273460
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01562
      Location:104206
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:717757
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:508543
      ADAM_CR; ADAM cysteine-rich
    6. XM_011539302.2XP_011537604.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X2

      See identical proteins and their annotated locations for XP_011537604.1

      Conserved Domains (5) summary
      smart00209
      Location:246298
      TSP1; Thrombospondin type 1 repeats
      pfam00090
      Location:666712
      TSP_1; Thrombospondin type 1 domain
      pfam05986
      Location:405520
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam06679
      Location:802876
      DUF1180; Protein of unknown function (DUF1180)
      cl00064
      Location:1148
      ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...
    7. XM_011539301.2XP_011537603.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X2

      See identical proteins and their annotated locations for XP_011537603.1

      Conserved Domains (5) summary
      smart00209
      Location:246298
      TSP1; Thrombospondin type 1 repeats
      pfam00090
      Location:666712
      TSP_1; Thrombospondin type 1 domain
      pfam05986
      Location:405520
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam06679
      Location:802876
      DUF1180; Protein of unknown function (DUF1180)
      cl00064
      Location:1148
      ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...
    8. XM_011539309.2XP_011537611.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X5

      Conserved Domains (4) summary
      smart00209
      Location:78130
      TSP1; Thrombospondin type 1 repeats
      pfam00090
      Location:498544
      TSP_1; Thrombospondin type 1 domain
      pfam05986
      Location:237352
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam06679
      Location:634708
      DUF1180; Protein of unknown function (DUF1180)

    RNA

    1. XR_001747025.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      71542163..71632194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364860.1XP_054220835.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X1

    2. XM_054364866.1XP_054220841.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X4

    3. XM_054364865.1XP_054220840.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X4

    4. XM_054364863.1XP_054220838.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X3

    5. XM_054364864.1XP_054220839.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X4

    6. XM_054364862.1XP_054220837.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X2

    7. XM_054364861.1XP_054220836.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X2

    8. XM_054364867.1XP_054220842.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X5

    RNA

    1. XR_008488168.1 RNA Sequence